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Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association.
Pediatr Dermatol. 2009 Jan-Feb; 26(1):97-9.PD

Abstract

Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1). It is a heterogeneous syndrome, and a number of variant cases have been reported. We report a patient with the features of COFS, with associated widespread hyperpigmented patches.

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Authors+Show Affiliations

Twede JV
National Naval Medical Center-Dermatology, Bethesda, Maryland 20899-5600, USA. jamestwede@gmail.com
Difazio M
No affiliation info available

MeSH

Abnormalities, MultipleCafe-au-Lait SpotsChildCraniofacial AbnormalitiesEye AbnormalitiesGenes, RecessiveHumansIntellectual DisabilityMalePhenotypeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19250421

Citation

Twede, James Vernal, and Mark Difazio. "Café Au Lait Macules and Cerebro-oculo-facio-skeletal Syndrome: a Novel Association." Pediatric Dermatology, vol. 26, no. 1, 2009, pp. 97-9.
Twede JV, Difazio M. Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. Pediatr Dermatol. 2009;26(1):97-9.
Twede, J. V., & Difazio, M. (2009). Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. Pediatric Dermatology, 26(1), 97-9. https://doi.org/10.1111/j.1525-1470.2008.00833.x
Twede JV, Difazio M. Café Au Lait Macules and Cerebro-oculo-facio-skeletal Syndrome: a Novel Association. Pediatr Dermatol. 2009 Jan-Feb;26(1):97-9. PubMed PMID: 19250421.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Café au lait macules and cerebro-oculo-facio-skeletal syndrome: a novel association. AU - Twede,James Vernal, AU - Difazio,Mark, PY - 2009/3/3/entrez PY - 2009/3/3/pubmed PY - 2009/5/19/medline SP - 97 EP - 9 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 26 IS - 1 N2 - Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1). It is a heterogeneous syndrome, and a number of variant cases have been reported. We report a patient with the features of COFS, with associated widespread hyperpigmented patches. SN - 1525-1470 UR - https://www.unboundmedicine.com/medline/citation/19250421/Café_au_lait_macules_and_cerebro_oculo_facio_skeletal_syndrome:_a_novel_association_ L2 - https://doi.org/10.1111/j.1525-1470.2008.00833.x DB - PRIME DP - Unbound Medicine ER -